Genome Sequencing Research Moving at Warp Speed -- What to Expect
According to Richard Resnick, CEO of GenomeQuest: "The world has completely changed and none of you know about it."
He says this in a lecture he's been giving (as a Ted Talk in Boston, above) to encourage people to wake up to the possibilities being created every day by genomics researchers and to influence how the new technologies are used--and regulated (to protect your privacy, for instance) or shared (to build a useful database).
There are effectively three main areas of importance in modern day genome research:
- Sequencing (who can do it fastest, cheapest, with greatest accuracy)
- Data collection and library building (who has significant numbers of sequencing records)
- Data processing and comparative analysis (who can make sense of the records)
Resnick's company, GenomeQuest, is a global provider of large-scale genomic software applications, hence in the third category. It's not surprising, then, that he is concerned with outcomes and the ways that genetic information is going to be put to use in the near future. Sequencing technology will soon be inexpensive enough that it will be routine for a person to have their genome sequenced or for a doctor to call for a gene profile. Data is being collected, collated, and shared in databanks with increasing frequency and efficiency. And software is being written to generate meaningful results from comparative analyses of those sequences. In a perfect world, at least. Compiling a database is one thing and making it available is another. It's significant that Renick's lecture is title "The Next Hot Commodity of Genome Sequences," with emphasis on commodity.
The New York Times recently reported that the Salt Lake City company Myriad Genetics won a court case to protect its patent on two cancer genes (yes, they can still be patented), but is facing complaints of unfairly sequestering test result data that other researchers could be using to learn more about risks for the disease. The company knows its technology is outdated (pretty soon you'll be able to have your entire genome sequenced for what it now costs to sequence only Myriad's genes) and is reluctant to give up their market advantage even if it makes them unpopular. Their naysayers charge that they have made a lot of money with their test over the years and the resulting data they collected should be in the public domain. Myriad says that sharing the results about the 2 genes it tests for would be giving too much away to its competitors.
The NIH's eMERGE network (see our blog) was established back in 2007 "to develop, disseminate, and apply approaches to research that combine DNA biorepositories with electronic medical record (EMR) systems for large-scale, high-throughput genetic research," and the program continues to be well-funded. EMR systems are the key to sharing medical information. Had all of Myriad's patient-clients had their test results stored electronically in a central public database, rather than on Myriad's alone, the NIH would not have to rely on Myriad's voluntary donation of that information in order to be able to access it.
Fortunately, the one strong, government-run social medicine program in the United States is the VA Medical System, and officials there have been wise to the value of electronically coding patients' data since the mid-90s. Their system is called VistA, which stands for Veterans Health Information Systems and Technology Architecture. Current VA problems in the news notwithstanding, instating VistA when they did (in 1996) has made the VA the industry leader in EMR systems record integration. Their most ambitious project yet was just announced: the Million Veterans Program (MVP), which aims to "consolidate genetic, military exposure, health, and lifestyle information together in one single database." Participation is voluntary and information will be stored using a code rather than a name to identify it. Though MVP is only now getting started, having VistA in place for 15 years already suggests that voluntary participation would make past electronic records available as well.
Given the value of information, it's clear that having access to it will have a major influence on what can be gleaned from it. When Resnick says in his talk that China is winning this race to the moon (re: genome sequencing research), that makes every bit of sense. This is mostly due to the incredible resources industry and the Chinese government are allocating to this endeavor. It remains to be seen how we will sort and share the tsunami of genomic data about to make landfall.
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